Canonical Allele Identifier: CA918629879
Gene: PTCHD3 HGNC NCBI

Linked Data

dbSNP Id: rs1564805816

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.27404146del , CM000672.2:g.27404146del GRCh38
NC_000010.10:g.27693075del , CM000672.1:g.27693075del GRCh37
NC_000010.9:g.27733081del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000642324.1:c.1212-789del ENSP00000495205.1:n.1212-789del
ENST00000438700.7:c.1212-789del ENSP00000417658.2:n.1212-789del
ENST00000622555.1:c.1212-789del ENSP00000479436.1:n.1212-789del
NM_001034842.3:c.1212-789del NP_001030014.2:n.1212-789del
XM_005252449.2:c.1090-789del XP_005252506.1:n.1090-789del
NM_001034842.4:c.1212-789del NP_001030014.2:n.1212-789del
NM_001034842.5:c.1212-789del NP_001030014.2:n.1212-789del
NM_001395743.1:c.1212-789del NP_001382672.1:n.1212-789del